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MMB8036 : Therapy Development for Rare Diseases: the neuromuscular paradigm (Inactive)

  • Inactive for Year: 2022/23
  • Module Leader(s): Dr Michela Guglieri
  • Lecturer: Professor Jordi Diaz Manera, Professor Volker Straub, Ms Catherine Turner, Ms Becca Leary, Mx Jan Deckers, Miss Victoria Hedley, Miss Liz Greally, Dr Anna Mayhew
  • Visiting Lecturer: Prof. Annemieke Aartsma-Rus, Dr Anna Sarkozy
  • Owning School: FMS Graduate School
  • Teaching Location: Newcastle City Campus
Semester 1 Credit Value: 20
ECTS Credits: 10.0


This module will provide key background information on normal muscle physiology and neuromuscular structure and function. It will continue into detailed discussion of the neuromuscular diseases, and the impact that these rare conditions have on muscle structure and function. The challenges and promise of novel therapeutic strategies for neuromuscular diseases, including gene and cell-based approached, will be a key focus of the module, which emphasises the 'bench to bedside' approach of translating laboratory findings into therapeutic interventions. Specific aims will be:

1. To educate students in the development of therapy for rare diseases, using neuromuscular diseases as an example of a growing field of research.

2. To explore the challenges and promise of genetic modifying therapies and gene therapy.

3. To develop students' understanding of the role of cellular and animal models in moving therapies into practice and the design of preclinical experiments.

4. To explore the challenges in drug development and clinical trial designs in rare diseases and how these can be addressed.

5. To introduce the students to ethical issues related to drug development and national and international regulatory requirements.

Outline Of Syllabus

The module will start with an introduction to neuromuscular diseases as an example of rare diseases. This will include normal muscle structure and function, including normal muscle physiology, how neuromuscular diseases impact on this and the clinical and electrophysiological manifestations of muscle dysfunction across the neuromuscular system. The module will then go on to cover:

1. How to define the target for clinical research: identify the molecular pathology of neuromuscular diseases to understand heterogeneity and identify potential therapeutic targets.

2. Model systems to study diseases: uses and limitations of cell cultures, zebra fish, mouse and other animal models to understand disease pathology and test therapeutic approaches. This includes an overview of existing models, methodology to develop new models and a critical appraisal of claims of therapeutic success in the preclinical setting.

3. Drug development in rare diseases: the different phases of clinical trials; discussion on clinical trial designs, clinical and biochemical outcome measures, their current use and future applications with examples from current pre-clinical studies and clinical trials.

4. The state of the art novel therapeutic strategies for neuromuscular diseases including: gene and cell based therapies; understanding the targets and use of biomarkers; genetic therapy for neuromuscular diseases applications of antisense oligonucleotide technology in neuromuscular diseases; other targets for therapy development including downstream targets and protein up regulation; pros and cons of clinical research on repurposing drugs.

5. Regulatory requirements and ethical issues in drug development for rare diseases.

6. The importance of international collaborations and examples of global networks and infrastructures to facilitate clinical research.

During the module, students will have the opportunity to meet patients with different neuromuscular diseases and will also have the opportunity to learn to critically assess preclinical research. This will be in the form of a session during which students will be provided with a fictional application from a company planning a clinical trial in a specified neuromuscular disease. Students will be encouraged to identify and discuss the strengths and limitations of the application.

Teaching Methods

Teaching Activities
Category Activity Number Length Student Hours Comment
Scheduled Learning And Teaching ActivitiesLecture141:0014:00PIP Delivery of information to meet knowledge outcomes via a series of lectures given by specialists
Guided Independent StudyAssessment preparation and completion132:0032:00Preparation for group exercise
Scheduled Learning And Teaching ActivitiesLecture11:001:00Synchronous online: lecture
Scheduled Learning And Teaching ActivitiesPractical11:001:00Present in person (PIP): Mock sessions on study designs.
Scheduled Learning And Teaching ActivitiesSmall group teaching24:008:00Present in Person: Experimental design/critical analysis of literature as prep for presentations
Scheduled Learning And Teaching ActivitiesSmall group teaching12:002:00Synchronous online:Ethical debates and problems in rare disease translational research
Scheduled Learning And Teaching ActivitiesWorkshops11:001:00Present in person: Meet the patients session
Scheduled Learning And Teaching ActivitiesWorkshops23:006:00Present in person: Assessed oral presentation sessions I and II
Guided Independent StudyIndependent study1135:00135:00
Teaching Rationale And Relationship

The series of lectures and seminars will deliver the key information to meet knowledge outcomes, and guided reading will reinforce and develop this knowledge. Small group teaching sessions allow for interactive discussion and preparation around data analysis and experimental design. The practical session delivers a session to critically assess a mock example of preclinical research.

Assessment Methods

The format of resits will be determined by the Board of Examiners

Description Length Semester When Set Percentage Comment
Written Examination601A60Present in person Examination: One essay question from a choice of three
Other Assessment
Description Semester When Set Percentage Comment
Prob solv exercises1M40Present in person: Group exercises and presentation (2 X 45 minutes per group)
Formative Assessments
Description Semester When Set Comment
Written exercise1MMCQ test on the content of the content of the assessed presentation
Assessment Rationale And Relationship

The written exam will test the knowledge of the students as related to all of the stated intended knowledge outcomes of the module.

The linked group working and presentations will test individual and group working abilities as well as presentation skills, the ability to put together complex information related to neuromuscular diseases, including experimental design and critical analysis of related research, and the ability to communicate it effectively to their peers. The group exercises and presentation are on specific disease groups, providing analysis of molecular pathology (first presentation), and therapeutic options (second presentation) of nominated topics. Marks are equally split between the two presentations.

The formative MCQ will allow students to test their knowledge of course material.

Reading Lists